Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487670 | SCV000574928 | likely pathogenic | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000677630 | SCV001200864 | pathogenic | Bailey-Bloch congenital myopathy | 2023-12-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys288*) in the STAC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAC3 are known to be pathogenic (PMID: 28411587, 28777491). This variant is present in population databases (rs371720347, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with congenital myopathy (PMID: 28411587). ClinVar contains an entry for this variant (Variation ID: 425007). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001267514 | SCV001445695 | pathogenic | Inborn genetic diseases | 2019-07-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000677630 | SCV000803759 | pathogenic | Bailey-Bloch congenital myopathy | 2023-03-10 | no assertion criteria provided | literature only | |
Gene |
RCV000677630 | SCV000994600 | not provided | Bailey-Bloch congenital myopathy | no assertion provided | literature only |